A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability.

@article{unap2012ANC,
  title={A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability.},
  author={Katrin {\~O}unap and Helen Puusepp-Benazzouz and Maire Peters and Ulvi Vaher and Reet Rein and Ann{\'e} L Proos and Mike H. Field and Tiia Reimand},
  journal={European journal of medical genetics},
  year={2012},
  volume={55 3},
  pages={178-84}
}
Mutations in the KDM5C gene (lysine (K)-specific demethylase 5C gene; also known as JARID1C and SMCX; MIM 314690) were recently associated with X-linked intellectual disability (XLID). To date only two case reports and five studies that screen for mutations in the KDM5C gene have been published, with 21 mutations reported. Herein we present a large family with XLID caused by a novel mutation c.2T > C in the start codon of the KDM5C gene, presumably leading to loss of gene translation. Six sibs… CONTINUE READING

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